Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767504_28767533del , CM000676.2:g.28767504_28767533del | GRCh38 |
| NC_000014.8:g.29236710_29236739del , CM000676.1:g.29236710_29236739del | GRCh37 |
| NC_000014.7:g.28306461_28306490del | NCBI36 |
| NG_009367.1:g.5424_5453del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005249.5:c.225_254del MANE Select | NP_005240.3:p.Pro76_Pro85del |
| ENST00000313071.7:c.225_254del MANE Select | ENSP00000339004.3:p.Pro76_Pro85del |
| NM_005249.4:c.225_254del | NP_005240.3:p.Pro76_Pro85del |
| ENST00000313071.6:c.225_254del | ENSP00000339004.3:p.Pro76_Pro85del |
| ENST00000706482.1:c.225_254del | ENSP00000516406.1:p.Pro76_Pro85del |